ANKF1_HUMAN
ID ANKF1_HUMAN Reviewed; 763 AA.
AC Q8N957;
DT 25-JUL-2006, integrated into UniProtKB/Swiss-Prot.
DT 24-NOV-2009, sequence version 2.
DT 03-AUG-2022, entry version 133.
DE RecName: Full=Ankyrin repeat and fibronectin type-III domain-containing protein 1;
GN Name=ANKFN1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ILE-445.
RC TISSUE=Brain;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S.,
RA Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E.,
RA Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K.,
RA LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J.,
RA Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A.,
RA Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K.,
RA Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in the
RT human lineage.";
RL Nature 440:1045-1049(2006).
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DR EMBL; AK095654; BAC04599.1; -; mRNA.
DR EMBL; AC006600; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC006925; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC015724; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS32686.1; -.
DR RefSeq; NP_694960.2; NM_153228.2.
DR AlphaFoldDB; Q8N957; -.
DR SMR; Q8N957; -.
DR STRING; 9606.ENSP00000321627; -.
DR iPTMnet; Q8N957; -.
DR PhosphoSitePlus; Q8N957; -.
DR BioMuta; ANKFN1; -.
DR DMDM; 269849542; -.
DR jPOST; Q8N957; -.
DR MassIVE; Q8N957; -.
DR PaxDb; Q8N957; -.
DR PeptideAtlas; Q8N957; -.
DR PRIDE; Q8N957; -.
DR ProteomicsDB; 72490; -.
DR Antibodypedia; 18285; 17 antibodies from 7 providers.
DR DNASU; 162282; -.
DR Ensembl; ENST00000318698.6; ENSP00000321627.2; ENSG00000153930.13.
DR GeneID; 162282; -.
DR KEGG; hsa:162282; -.
DR UCSC; uc002iun.1; human.
DR CTD; 162282; -.
DR DisGeNET; 162282; -.
DR GeneCards; ANKFN1; -.
DR HGNC; HGNC:26766; ANKFN1.
DR HPA; ENSG00000153930; Group enriched (brain, cervix, fallopian tube).
DR neXtProt; NX_Q8N957; -.
DR OpenTargets; ENSG00000153930; -.
DR PharmGKB; PA142672624; -.
DR VEuPathDB; HostDB:ENSG00000153930; -.
DR eggNOG; KOG4485; Eukaryota.
DR GeneTree; ENSGT00940000159856; -.
DR HOGENOM; CLU_010667_0_0_1; -.
DR InParanoid; Q8N957; -.
DR OMA; SINWNCC; -.
DR OrthoDB; 1305469at2759; -.
DR PhylomeDB; Q8N957; -.
DR TreeFam; TF314968; -.
DR PathwayCommons; Q8N957; -.
DR SignaLink; Q8N957; -.
DR BioGRID-ORCS; 162282; 11 hits in 1063 CRISPR screens.
DR ChiTaRS; ANKFN1; human.
DR GenomeRNAi; 162282; -.
DR Pharos; Q8N957; Tdark.
DR PRO; PR:Q8N957; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q8N957; protein.
DR Bgee; ENSG00000153930; Expressed in buccal mucosa cell and 120 other tissues.
DR ExpressionAtlas; Q8N957; baseline and differential.
DR Genevisible; Q8N957; HS.
DR GO; GO:0005819; C:spindle; IBA:GO_Central.
DR GO; GO:0000132; P:establishment of mitotic spindle orientation; IBA:GO_Central.
DR GO; GO:0061172; P:regulation of establishment of bipolar cell polarity; IBA:GO_Central.
DR CDD; cd00063; FN3; 1.
DR Gene3D; 1.25.40.20; -; 1.
DR Gene3D; 2.60.40.10; -; 1.
DR InterPro; IPR039269; ANKFN1.
DR InterPro; IPR002110; Ankyrin_rpt.
DR InterPro; IPR036770; Ankyrin_rpt-contain_sf.
DR InterPro; IPR003961; FN3_dom.
DR InterPro; IPR036116; FN3_sf.
DR InterPro; IPR013783; Ig-like_fold.
DR PANTHER; PTHR21437; PTHR21437; 1.
DR Pfam; PF13637; Ank_4; 1.
DR Pfam; PF00041; fn3; 1.
DR SMART; SM00248; ANK; 2.
DR SMART; SM00060; FN3; 1.
DR SUPFAM; SSF48403; SSF48403; 1.
DR SUPFAM; SSF49265; SSF49265; 1.
DR PROSITE; PS50297; ANK_REP_REGION; 1.
DR PROSITE; PS50088; ANK_REPEAT; 1.
DR PROSITE; PS50853; FN3; 1.
PE 2: Evidence at transcript level;
KW ANK repeat; Coiled coil; Reference proteome; Repeat.
FT CHAIN 1..763
FT /note="Ankyrin repeat and fibronectin type-III domain-
FT containing protein 1"
FT /id="PRO_0000247138"
FT REPEAT 136..165
FT /note="ANK 1"
FT REPEAT 173..202
FT /note="ANK 2"
FT DOMAIN 273..369
FT /note="Fibronectin type-III"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT COILED 205..236
FT /evidence="ECO:0000255"
FT VARIANT 445
FT /note="V -> I (in dbSNP:rs10852985)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_060725"
SQ SEQUENCE 763 AA; 87604 MW; 49174DE8572FC994 CRC64;
MEASLTRRLL FKDRHFTCSK IIGRRFACFA QRLSHRRKQS QCDLLNESTG QLPTTCSSAA
SNSINWNCRV KMTQQMQNLH LCQSKKHSAP SSPNAAKRLY RNLSEKLKGS HSSFDEAYFR
TRTDRLSLRK TSVNFQGNEA MFEAVEQQDM DAVQILLYQY TPEELDLNTP NSEGLTPLDI
AIMTNNVPIA RILLRTGARE SPHFVSLESR AMHLNTLVQE AQERVSELSA QVENEGFTLD
NTEKEKQLKA WEWRYRLYRR MKTGFEHARA PEMPTNVCLM VTSSTSLTVS FQEPLSVNAA
VVTRYKVEWS MSEDFSPLAG EIIMDNLQTL RCTITGLTMG QQYFVQVSAY NMKGWGPAQT
TTPACASPSN WKDYDDREPR HKGQSEVLEG LLQQVRALHQ HYSCRESTKL QTTGRKQSVS
RSLKHLFHSS NKFVKTLKRG LYIAVIFYYK DNILVTNEDQ VPIVEIDDSH TSSITQDFLW
FTKLSCMWED IRWLRQSIPI SSSSSTVLQT RQKMLAATAQ LQNLLGTHNL GRVYYEPIKD
RHGNILIVTI REVEMLYSFF NGKWMQISKL QSQRKSLSTP EEPTALDILL ITIQDILSYH
KRSHQRLFPG LYLGYLKLCS SVDQIKVLVT QKLPNILCHV KIRENNNISR EEWEWIQKLS
GSESMESVDH TSDCPMQLFF YELQMAVKAL LQQINIPLHQ ARNFRLYTQE VLEMGHNVSF
LLLLPASDDV CTAPGQNNPY TPHSGFLNLP LQMFELGIVA CFT
